Canonical Allele Identifier: CA124701
Gene: HBD HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.5234132G>T
GRCh37 chr11:g.5255362G>T
Revel Score:
ENST00000292901 0.571
ENST00000380299 0.571
ENST00000429817 0.571
gnomAD v2:
11:5255362 G / T
gnomAD v4:
chr11-5234132-G-T
Joint Max Group AF 0.00000688 (NFE)
Exomes Max Group AF 0.00000731 (NFE)
ClinVar RCV:
RCV000016234
ClinVar Variation:
15081
dbSNP:
35666685
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5234132G>T , CM000673.2:g.5234132G>T GRCh38
NC_000011.9:g.5255362G>T , CM000673.1:g.5255362G>T GRCh37
NC_000011.8:g.5211938G>T NCBI36
NG_000007.3:g.63484C>A
NG_063112.2:g.14526C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000643122.1:c.174C>A ENSP00000494708.1:p.Asn58Lys
ENST00000650601.1:c.174C>A MANE Select ENSP00000497529.1:p.Asn58Lys
ENST00000292901.7:c.174C>A ENSP00000292901.3:p.Asn58Lys
ENST00000380299.3:c.174C>A ENSP00000369654.3:p.Asn58Lys
ENST00000417377.1:c.92+210C>A ENSP00000414741.1:n.92+210C>A
ENST00000429817.1:c.174C>A ENSP00000393810.1:p.Asn58Lys
NM_000519.3:c.174C>A NP_000510.1:p.Asn58Lys
NM_000519.4:c.174C>A MANE Select NP_000510.1:p.Asn58Lys
Search 100 bp 5'
Search 100 bp 3'